Recently, Carvalho et al. documented a case of a patient with EEC who exhibited an isolated deletion of the PMS2 protein alongside a germline MLH1 mutation, c.193G > A (p.Gly65Ser) [95], indicating a potential association between certain PMS2 defects and MLH1 abnormalities. This evidence concerns the gene MLH1 and exstrophy-epispadias complex.